Chu, Chung et al. quantify the clinical utility of genome sequencing (GS) using the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) in a diverse cohort from the Hong Kong Genome Project.
This study presents valuable findings implicating nuclear export in the regulation of protein condensate behaviour and TDP-43 phase behaviour, suggesting a link to pathogenic aggregation in ALS/FTD.